A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3990e59



Internal ID20130739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869196..148869802hg38UCSC Ensembl
chr7:148566288..148566894hg19UCSC Ensembl
chr7:148197221..148197827hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38607
hg19607
hg18607
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302512, esv3302920
SamplesNA18504, NA18489, NA18498, NA18520, NA19239, NA18871, NA18907, NA18499, NA18912, NA18523, NA18909, NA19240, NA18505, NA18511
Known GenesEZH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3990e59
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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